Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Myotonic Dystrophy (Synonyms: DM1, DM2, Myotonic Dystrophy type 1, Myotonic Dystrophy type 2, DMPK, CNBP, ZNF9)

Test Includes:

Gene: DMPK (type 1) CNBP (type 2)

Ordering Alert:

Ordering is Restricted:

Confirmation of Diagnosis¹

Myotonic Dystrophy type 1: Clinical Genetics, Neurology, Neonatology, Obstetrics and Physical Medicine & Rehabilitation

Myotonic Dystrophy type 2: Clinical Genetics, Neurology and Physical Medicine & Rehabilitation

Presymptomatic Testing² Clinical Genetics

¹patient has signs or symptoms of the disease/disorder
²patient does not presently have symptoms, positive family history of the condition

For prenatal testing, amniotic fluid specimens are preferred. See Method and Interpretation of Results for details.

Collection Alert:

Unopened dedicated tubes (do not share) are required for Molecular Genetics testing.

LABID (Connect Care):

LAB4812

Test Code:

CALGARY ZONE	MDLBL IN MDL TEST NAME PROMPT ENTER NAME OF THE TEST OR STORE SAMPLE
EDMONTON ZONE	MYD-;APPEND SPECIMEN TYPE
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Blood, Swab, Tissue, DNA, Amniotic Fluid, Pleural Fluid, Other

Specimen Source:

Indicate a specimen source

Primary Container:

Lavender top EDTA

Alternate Containers:

Microcollection - EDTA
Polypropylene tube
DNA tube
Sterile container

Minimum Collection Volume:

See Specimen Collection Requirements

Specimen Collection Requirements:

For Blood Specimen (peripheral or cord blood)
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw

For Patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
For Patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
For Neonates: 1 EDTA containing a minimum of 0.5 mL of blood

For Postnatal (cord blood)

A maternal blood sample must be collected for maternal cell contamination studies.

For Prenatal Specimens (chorionic villi or amniotic fluid)

For Chorionic Villi specimens: 15 mg
For Amniotic Fluid specimens: 25 mL
Submit in a sterile polypropylene centrifuge tube or in a plain sterile tube with screw cap.
A maternal blood sample must be collected for maternal cell contamination studies.

For Other Tissue Specimens

For Fresh or Frozen Tissue specimens: Submit a minimum of 20 mg in a sterile container with NO fixative.
For Cultured Cells: Confluent (overgrown) T25 flask (or equivalent) placed in transport media.

For Extracted DNA

Submit 10ug @ >100ng/uL.

For Buccal Swab Specimens

Collect 4 buccal brushes.

For Pleural Fluid Specimen

Will attempt DNA extraction on any amount received
Submit in a sterile container with screw cap.

Test Resources:

Pre-test Counselling Information-Genetic and GenomicTesting

All requests MUST be submitted on:

Molecular Genetics Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Room temperature: For all specimen types (except frozen tissue) if being shipped on same day of collection (preferred).
Refrigerated: If shipping is delayed.
Frozen: Frozen tissue specimens at -20^oC to -80^oC.

Processing:

Do not centrifuge or aliquot specimens.

Transportation:

Transport all specimen types (except frozen tissue) at room temperature.
Specimens must not freeze in transit.

Transport frozen tissue specimens with adequate amounts of dry ice to keep specimen frozen.
Specimens must not thaw in transport.

Specimens, should be received by the Molecular Genetics Laboratory:

Within 5 days of date of collection for Blood and Extracted DNA specimens.
Within 24 hours of date of collection for Amniotic Fluid, Chorionic Villi and Tissue specimen types.
And must include the original paper requisition and accompanying documentation

Transport specimens to Molecular Genetics Laboratory at Alberta Children’s Hospital Room B0-020.

Method:

PCR sizing and repeat-primed PCR

Method and Interpretation of Results:

Detects and sizes normal, premutation and small expanded pathogenic alleles; very large expanded pathogenic alleles will be detected by repeat-primed PCR but sizing will not be available.

Testing for the pathogenic allele in a chorionic villus specimen can discriminate inheritance of a normal allele and a pathogenic allele; however, the repeat size of the pathogenic allele detected in placental cells may not represent the repeat size in the fetus.

Routine Turn Around Time:

Routine: 6 to 8 weeks, Stat: 1 to 2 weeks

Reference Interval:

Interpretation provided on report.

Testing Area:

Molecular Genetics

Performing Site:

Alberta Children's Hospital

Additional Test Information:

To obtain buccal swab collection kits, contact:

Molecular Genetics South

403-955-3097

Contact Comments:

For additional information refer to Genetics and Genomics webpage or contact:
Molecular Genetics South: 403-955-7397 (phone), 403-955-7624 (fax)

Last Updated On:

Monday, August 29, 2022

Date of Last Review:

Aug 1 2022 12:00AM